Cystic Fibrosis Eric Simkins
Inheritance <ul><li>Is Autosomal Recessive </li></ul><ul><ul><li>Carried on Autosomes </li></ul></ul><ul><ul><li>To be aff...
Inheritance <ul><li>If both parents are carriers: </li></ul><ul><ul><li>25% chance of having a child with CF. </li></ul></...
 
Physiological Cause of Symptoms <ul><li>The defective gene on chromosome 7 alters a protein that transports chloride ions ...
Symptoms <ul><li>Respiratory Problems </li></ul><ul><ul><li>Caused by excess mucus in the respiratory tracts. </li></ul></...
Symptoms <ul><li>Digestive Problems </li></ul><ul><ul><li>Caused by excess mucus blocking ducts leading from the pancreas ...
Symptoms <ul><li>Abnormally salty tasting sweat. </li></ul><ul><ul><li>Due to excess salt in the sweat. </li></ul></ul><ul...
Treatments <ul><li>Practice Airway Clearance Techniques </li></ul><ul><li>Mucolytics—inhaled drugs that thin mucus </li></...
Testing <ul><li>Genetic Carrier Testing—for adults </li></ul><ul><li>Newborn Screening—not definitive, but recommended by ...
History <ul><li>17 th  Century-1900’s—Stories, Songs, and Records depict people with the symptoms of CF. </li></ul><ul><li...
Other Info <ul><li>1:3,500 in the US </li></ul><ul><li>The Cystic Fibrosis Foundation </li></ul><ul><li>The Mayo Clinic CF...
 
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Cystic Fibrosis2

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A presentation about cystic fibrosis for a high school biology class.

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Cystic Fibrosis2

  1. 1. Cystic Fibrosis Eric Simkins
  2. 2. Inheritance <ul><li>Is Autosomal Recessive </li></ul><ul><ul><li>Carried on Autosomes </li></ul></ul><ul><ul><li>To be affected an individual must be homozygous recessive. </li></ul></ul><ul><ul><li>Heterozygous individuals are carriers </li></ul></ul><ul><ul><ul><li>Meaning they are not affected by the disorder, but can pass it on to their children. </li></ul></ul></ul>
  3. 3. Inheritance <ul><li>If both parents are carriers: </li></ul><ul><ul><li>25% chance of having a child with CF. </li></ul></ul><ul><ul><li>50% chance of having a child that will be a carrier. </li></ul></ul><ul><ul><li>25% chance of having a child who is not affected and is not a carrier. </li></ul></ul>
  4. 5. Physiological Cause of Symptoms <ul><li>The defective gene on chromosome 7 alters a protein that transports chloride ions into/out of cells. </li></ul><ul><li>Chloride Ions (Cl-) are not absorbed into cells. </li></ul><ul><li>Water is not absorbed by cells. </li></ul><ul><li>The cells produce too much mucus. </li></ul>
  5. 6. Symptoms <ul><li>Respiratory Problems </li></ul><ul><ul><li>Caused by excess mucus in the respiratory tracts. </li></ul></ul><ul><ul><li>Coughing or wheezing </li></ul></ul><ul><ul><li>Recurring respiratory infections </li></ul></ul>
  6. 7. Symptoms <ul><li>Digestive Problems </li></ul><ul><ul><li>Caused by excess mucus blocking ducts leading from the pancreas to duodenum. </li></ul></ul><ul><ul><li>Greasy stools. </li></ul></ul><ul><ul><li>Clay colored stools that float. </li></ul></ul><ul><ul><li>Diarrhea </li></ul></ul><ul><ul><li>Weight loss </li></ul></ul><ul><ul><li>Slow growth </li></ul></ul>
  7. 8. Symptoms <ul><li>Abnormally salty tasting sweat. </li></ul><ul><ul><li>Due to excess salt in the sweat. </li></ul></ul><ul><li>Clubbing of the fingers or toes. </li></ul><ul><ul><li>Fingertips or toes appear rounded or expanded. </li></ul></ul><ul><li>90% of males with Cystic Fibrosis are sterile. </li></ul><ul><ul><li>They have no vas deferens </li></ul></ul>
  8. 9. Treatments <ul><li>Practice Airway Clearance Techniques </li></ul><ul><li>Mucolytics—inhaled drugs that thin mucus </li></ul><ul><li>Antibiotics to fight respiratory infections </li></ul><ul><li>Diet </li></ul><ul><li>Enzyme Supplements—to replace missing digestive enzymes </li></ul><ul><li>Lung Transplant </li></ul>
  9. 10. Testing <ul><li>Genetic Carrier Testing—for adults </li></ul><ul><li>Newborn Screening—not definitive, but recommended by the CFF. </li></ul><ul><li>Sweat Testing—if symptoms are shown. </li></ul>
  10. 11. History <ul><li>17 th Century-1900’s—Stories, Songs, and Records depict people with the symptoms of CF. </li></ul><ul><li>1938—Dr. Dorothy Anderson records the first concrete description of CR. </li></ul><ul><li>1940’s—Dorothy Anderson and Dr. Hodges conclude it is passed by Mendelian recessive inheritance. </li></ul><ul><li>1950’s—Sweat Test is discovered and implemented. </li></ul><ul><li>1989—CF gene identified on chromosome 7. </li></ul>
  11. 12. Other Info <ul><li>1:3,500 in the US </li></ul><ul><li>The Cystic Fibrosis Foundation </li></ul><ul><li>The Mayo Clinic CF Site </li></ul>
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